Tag Archives: Reference

Genetics Home Reference: rigid spine muscular dystrophy

Ardissone A, Bragato C, Blasevich F, Maccagnano E, Salerno F, Gandioli C, Morandi L, Mora M, Moroni I. SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. Eur J Pediatr. 2016 Aug;175(8):1113-8. doi: 10.1007/s00431-015-2685-3. Epub 2016 Jan 16. Caggiano S, Khirani S, Dabaj I, Cavassa E, Amaddeo A, Arroyo JO, Desguerre I, Richard P,… Read More »

Genetics Home Reference: hyaline fibromatosis syndrome

Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs. The severity of the signs and symptoms of hyaline fibromatosis syndrome fall along a spectrum. In more severe cases (previously diagnosed as… Read More »